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NOTCH3 variant position is associated with NOTCH3 aggregation load in CADASIL vasculature.
Neuropathol Appl Neurobiol. 2022 Feb;48(1):e12751. doi: 10.1111/nan.12751. Epub 2021 Jul 30.
Neuropathol Appl Neurobiol. 2022.
PMID: 34297860
Free PMC article.
Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy Family Members With a Pathogenic NOTCH3 Variant Can Have a Normal Brain Magnetic Resonance Imaging and Skin Biopsy Beyond Age 50 Years.
Hack RJ, Gravesteijn G, Cerfontaine MN, Hegeman IM, Mulder AA, Lesnik Oberstein SAJ, Rutten JW.
Hack RJ, et al. Among authors: cerfontaine mn.
Stroke. 2022 Jun;53(6):1964-1974. doi: 10.1161/STROKEAHA.121.036307. Epub 2022 Mar 18.
Stroke. 2022.
PMID: 35300531
Free PMC article.
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Effect of NOTCH3 EGFr Group, Sex, and Cardiovascular Risk Factors on CADASIL Clinical and Neuroimaging Outcomes.
Hack RJ, Cerfontaine MN, Gravesteijn G, Tap S, Hafkemeijer A, van der Grond J, Witjes-Ané MN, Baas F, Rutten JW, Lesnik Oberstein SAJ.
Hack RJ, et al. Among authors: cerfontaine mn.
Stroke. 2022 Oct;53(10):3133-3144. doi: 10.1161/STROKEAHA.122.039325. Epub 2022 Jul 13.
Stroke. 2022.
PMID: 35862191
Free PMC article.
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Association of NOTCH3 Variant Risk Category With 2-Year Clinical and Radiologic Small Vessel Disease Progression in Patients With CADASIL.
Cerfontaine MN, Hack RJ, Gesierich B, Duering M, Witjes-Ané MW, Rodríguez-Girondo M, Gravesteijn G, Rutten J, Lesnik Oberstein SAJ.
Cerfontaine MN, et al.
Neurology. 2024 May 28;102(10):e209310. doi: 10.1212/WNL.0000000000209310. Epub 2024 May 7.
Neurology. 2024.
PMID: 38713890
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Bi-allelic NIT1 variants cause a brain small vessel disease characterized by movement disorders, massively dilated perivascular spaces, and intracerebral hemorrhage.
Rutten JW, Cerfontaine MN, Dijkstra KL, Mulder AA, Vreijling J, Kruit M, Koning RI, de Bot ST, van Nieuwenhuizen KM, Baelde HJ, Berendse HW, Mei LH, Ruijter GJG, Baas F, Jost CR, van Duinen SG, Nibbeling EAR, Gravesteijn G, Lesnik Oberstein SAJ.
Rutten JW, et al. Among authors: cerfontaine mn.
Genet Med. 2024 Feb 27;26(6):101105. doi: 10.1016/j.gim.2024.101105. Online ahead of print.
Genet Med. 2024.
PMID: 38430071
Free article.
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Three-tiered EGFr domain risk stratification for individualized NOTCH3-small vessel disease prediction.
Hack RJ, Gravesteijn G, Cerfontaine MN, Santcroos MA, Gatti L, Kopczak A, Bersano A, Duering M, Rutten JW, Lesnik Oberstein SAJ.
Hack RJ, et al. Among authors: cerfontaine mn.
Brain. 2023 Jul 3;146(7):2913-2927. doi: 10.1093/brain/awac486.
Brain. 2023.
PMID: 36535904
Free PMC article.
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